DMD c.2571del ;(p.T858Pfs*13)

Variant ID: X-32509444-TG-T

NM_004006.2(DMD):c.2571del;(p.T858Pfs*13)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Frontiers In Pharmacology
Wang, Dong D; Gao, Min M; Zhang, Kaihui K; Jin, Ruifeng R; Lv, Yuqiang Y; Liu, Yong Y; Ma, Jian J; Wan, Ya Y; Gai, Zhongtao Z; Liu, Yi Y
Publication Date: 2019

Variant appearance in text: DMD: 2571delC
PubMed Link: 31404137
Variant Present in the following documents:
  • Main text
  • fphar-10-00814.pdf
View BVdb publication page



A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: 2571delC
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23

Variant appearance in text: DMD: 2571delC
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page